Article
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.
Annals of neurology - 1 Jun 1996
Tawil R, Forrester J, Griggs R C, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by marked inter- and intrafamilial heterogeneity in its clinical expression. The contribution of genetic factors to this variability is not well characterized. We examined the relationship of phenotype to genotype in a clinically and genetically well-defined FSHD population. Quantitative isometric myometry (QMT) scores, normalized for age, gender, and...
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